IQCE, IQ motif containing E, 23288

N. diseases: 10; N. variants: 4
Disease: Renal cyst ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3887499
Disease: Renal cyst
Renal cyst 		0.010 Biomarker phenotype BEFREE RNA expression analysis on patients' fibroblasts confirms that the dysfunction of IQCE leads to the dysregulation of genes associated with the hedgehog-signaling pathway, and zebrafish experiments demonstrate a full spectrum of phenotypes linked to defective cilia: Body curvature, kidney cysts, left-right asymmetry, misdirected cilia in the pronephric duct, and retinal defects. 31549751 2020